Discovery of 42 genome-wide significant loci associated with dyslexia
Authors: Catherine Doust, Pierre Fontanillas, Else Eising, Scott D. Gordon, Zhengjun Wang, Gökberk Alagöz, Barbara Molz, Stella Aslibekyan, Adam Auton, Elizabeth Babalola, Robert K. Bell, Jessica Bielenberg, Katarzyna Bryc, Emily Bullis, Daniella Coker, Gabriel Cuellar Partida, Devika Dhamija, Sayantan Das, Sarah L. Elson, Teresa Filshtein, Kipper Fletez-Brant, Will Freyman, Pooja M. Gandhi, Karl Heilbron, Barry Hicks, David A. Hinds, Ethan M. Jewett, Yunxuan Jiang, Katelyn Kukar, Keng-Han Lin, Maya Lowe, Jey McCreight, Matthew H. McIntyre, Steven J. Micheletti, Meghan E. Moreno, Joanna L. Mountain, Priyanka Nandakumar, Elizabeth S. Noblin, Jared O’Connell, Aaron A. Petrakovitz, G. David Poznik, Morgan Schumacher, Anjali J. Shastri, Janie F. Shelton, Jingchunzi Shi, Suyash Shringarpure, Vinh Tran, Joyce Y. Tung, Xin Wang, Wei Wang, Catherine H. Weldon, Peter Wilton, Alejandro Hernandez, Corinna Wong, Christophe Toukam Tchakouté, Filippo Abbondanza, Andrea G. Allegrini, Till F. M. Andlauer, Cathy L. Barr, Manon Bernard, Kirsten Blokland, Milene Bonte, Dorret I. Boomsma, Thomas Bourgeron, Daniel Brandeis, Manuel Carreiras, Fabiola Ceroni, Valéria Csépe, Philip S. Dale, Peter F. de Jong, Jean Francois Démonet, Eveline L. de Zeeuw, Yu Feng, Marie-Christine J. Franken, Margot Gerritse, Alessandro Gialluisi, Sharon L. Guger, Marianna E. Hayiou-Thomas, Juan Hernández-Cabrera, Jouke-Jan Hottenga, Charles Hulme, Philip R. Jansen, Juha Kere, Elizabeth N. Kerr, Tanner Koomar, Karin Landerl, Gabriel T. Leonard, Zhijie Liao, Maureen W. Lovett, Heikki Lyytinen, Angela Martinelli, Urs Maurer, Jacob J. Michaelson, Nazanin Mirza-Schreiber, Kristina Moll, Angela T. Morgan, Bertram Müller-Myhsok, Dianne F. Newbury, Markus M. Nöthen, Tomas Paus, Zdenka Pausova, Craig E. Pennell, Robert J. Plomin, Kaitlyn M. Price, Franck Ramus, Sheena Reilly, Louis Richer, Kaili Rimfeld, Gerd Schulte-Körne, Chin Yang Shapland, Nuala H. Simpson, Margaret J. Snowling, John F. Stein, Lisa J. Strug, Henning Tiemeier, J. Bruce Tomblin, Dongnhu T. Truong, Elsje van Bergen, Marc P. van der Schroeff, Marjolein Van Donkelaar, Ellen Verhoef, Carol A. Wang, Kate E. Watkins, Andrew J. O. Whitehouse, Karen G. Wigg, Margaret Wilkinson, Gu Zhu, Beate St Pourcain, Clyde Francks, Riccardo E. Marioni, Jingjing Zhao, Silvia Paracchini, Joel B. Talcott, Anthony P. Monaco, John F. Stein, Jeffrey R. Gruen, Richard K. Olson, Erik G. Willcutt, John C. DeFries, Bruce F. Pennington, Shelley D. Smith, Margaret J. Wright, Nicholas G. Martin, Adam Auton, Timothy C. Bates, Simon E. Fisher, Michelle Luciano
Journal: Nature Genetics (2022)

Abstract Reading and writing are crucial life skills but roughly one in ten children are affected by dyslexia, which can persist into adulthood. Family studies of dyslexia suggest heritability up to 70%, yet few convincing genetic markers have been found. Here we performed a genome-wide association study of 51,800 adults self-reporting a dyslexia diagnosis and 1,087,070 controls and identified 42 independent genome-wide significant loci: 15 in genes linked to cognitive ability/educational attainment, and 27 new and potentially more specific to dyslexia. We validated 23 loci (13 new) in independent cohorts of Chinese and European ancestry. Genetic etiology of dyslexia was similar between sexes, and genetic covariance with many traits was found, including ambidexterity, but not neuroanatomical measures of language-related circuitry. Dyslexia polygenic scores explained up to 6% of variance in reading traits, and might in future contribute to earlier identification and remediation of dyslexia.